Results 141 to 150 of about 1,240 (187)

Clinical and laboratory aspects of patients diagnosed with various inherited platelet disorders. [PDF]

Res Pract Thromb Haemost
Gök V, Ozcan A, Mutlu FT, Yılmaz E, Kocak Göl D, Ozay M, Demir B, Taskiran H, Bas H, Mutlu MB, Dogan ME, Bisgin A, Somekh I, Rohlfs M, Dundar M, Ozkul Y, Klein C, Karakukcu M, Unal E.   +18 more
europepmc   +1 more source

Genetic Testing for Children with Familial Hypercholesterolemia. [PDF]

J Atheroscler Thromb
Nagahara K, Tada H, Dobashi K.
europepmc   +1 more source

Intertriginous Xanthomas: Clues to Homozygous Familial Hypercholesterolemia. [PDF]

Indian Dermatol Online J
Mehta N, Anand G, Choudhary A, Gupta S.
europepmc   +1 more source

Homozygous phytosterolemia and a literature review: A case report.

World J Clin Cases
Jiang CX, Yang G, Shi LP, Su PY.
europepmc   +1 more source

Genetic basis and hematologic manifestations of sitosterolemia in a group of Turkish patients

Journal of Clinical Lipidology, 2021
BACKGROUND: Sitosterolemia is a rare lipid disorder caused by mutations in adenosine triphosphatebinding cassette genes ( ABCG ) 5 and 8. OBJECTIVE: To evaluate the phenotypic/genotypic features of sitosterolemia in a group of Turkish patients.
Zühre Kaya, Ertan Sal, Huseyin Gülen   +2 more
exaly   +2 more sources

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Update on Sitosterolemia and Atherosclerosis

Current Atherosclerosis Reports, 2023
The purpose of this review was to summarize important and updated information on sitosterolemia. Sitosterolemia is an inherited lipid disorder consisting of high levels of plasma plant sterols. This sterol storage condition is caused by biallelic loss-of-function genetic variants in either ABCG5 or ABCG8, leading to increased intestinal absorption and ...
Viviane Zorzanelli Rocha
exaly   +3 more sources

Sitosterolemia

2022
Sitosterolemia is an inherited metabolic disorder characterized by increased levels of plant sterols, such as sitosterol. This disease is caused by loss-of-function genetic mutations in the ATP-binding cassette (ABC) subfamily G member 5 or member 8 (ABCG5 or ABCG8, respectively), both of which play important roles in the selective excretion of plant ...
Hayato, Tada, Nobuko, Kojima, Masayuki, Takamura, Masa-Aki, Kawashiri   +3 more
openaire   +3 more sources